Station 2/5: Rheumatology Flashcards
what are the 1997 Revised ACR diagnostic criteria for SLE?
need 4 out of 11
DOMP CRASH AI
Cutaneous features:
1. Malar rash (sparing nasolabial folds)
2. Discoid rash (scarring)
3. Photosensitivity
4. Oral Ulcers
Systemic
5. Arthritis: non erosive (>/= 2 peripheral joints)
6. serositis: pleuritis, pericarditis, peritonitis
7. Renal involvement: proteinuria, cellular cast, renal impairment
8. CNS: psychosis, seizures
Laboratory
9. Haematological cytopenias: leukopenia, lymphopenia; haemolytic anaemia; thrombocytopenia
10. Anti-Nuclear antibody positive
11. Immunological:
- antiphospholipid antibodies (anticardiolipin antibody, lupus anticoagulant, false + VDRL)
- anti dsDNA, anti-Smith
what are the cutaneous features that are part of the diagnostic criteria for SLE?
- Malar rash (sparing nasolabial folds)
- Discoid rash (scarring)
- Photosensitivity
- Oral Ulcers
what are the systemic features that are part of the diagnostic criteria for SLE?
- Arthritis: non erosive (>/= 2 peripheral joints)
- serositis: pleuritis, pericarditis, peritonitis
- Renal involvement: proteinuria, cellular cast, renal impairment
- CNS: psychosis, seizures
what are the laboratory features that are part of the diagnostic criteria for SLE?
Laboratory
9. Haematological cytopenias: leukopenia, lymphopenia; haemolytic anaemia; thrombocytopenia
10. Anti-Nuclear antibody positive
11. Immunological:
- antiphospholipid antibodies (anticardiolipin antibody, lupus anticoagulant, false + VDRL)
- anti dsDNA, anti-Smith
what are some other features of SLE not classically in the diagnostic criteria?
fever
LOW
alopecia
livedo reticularis
vasculitis
Raynauds phenomenon
sjogrens
anti-phospholipid syndrome
interstitial lung disease
what other conditions are commonly associated with SLE?
Raynaud’s phenomenon
Sjogren’s
Anti-phospholipid syndrome
Interstitial Lung disease
what is an overlap syndrome?
presence of clinical features and autoantibodies of >/= connective tissue disorders
includes mixed connective tissue disease and scleromyositis - exact diagnosis depends on which disease patient shows predominant symptoms
history taking in SLE: what to ask for?
- rash: distribution, photosensitivity, livedo reticularis
- alopecia
- oral, genital ulcers
- sicca symptoms: dry eyes/ mouth
- joint pain/ swelling: distribution/ deformity
- early morning stiffness: duration, improvement with exercise
- digitial gangrene (vasculitis)
- serositis: chest / abdo pain
- fatiguability, lethargy
- hx of renal impairment, proteinuria (frothy urine, LL swelling)
- hx CNS disorder- seizures, psychosis
- hx of anaemia
- blood clots/prothrombotic: TTP, APS, PE, DVT
AI screen:
fever, LOW, LOA
Raynaud’s phenomenon
Telangiectasia
SOB from ILD
Treatment complications
PMH, Drug hx, FHx, Social Hx, obstetric hx
what other PMH etc to ask for in history taking for SLE?
PMH
med hx, drug allergy and TCM use
smoking, ETOH
family hx of thyroid/ autoimmune disorder
job, hobbies
functional impairment and impact on ADL
plans for pregnancy
what to ask for re: treatment complications in patient with SLE?
cushingoid, hirsutism, cataracts
hx of DM, HTN, HLD
hx of osteoporosis, AVN fem head, mood disturbances
anaemia- SOBOE, postural giddiness, GI bleed, lethargy
Hx CKD, transaminitis
Maculopathy 2’ HCQ
what to examine for in patient with SLE?
General appearance
Hands
Upper limbs
Face
Cardio-Respi
Rest of body
Function
what to examine for in patient with SLE?
(General appearance)
cushingoid, xanthelasma, DM dermopathy
Facial malar rash (sparing nasolabial folds)
alopecia (beware of wig!)
look for possible overlap syndrome/ MCTD (features of RA, SSc, Myositis)
what to examine for in patient with SLE?
(Hands)
Arthritis/ arthralgia
Jaccoud’s arthropathy
Livedo reticularis
Vasculitic changes, digitial gangrene, splinter haemorrhages, nail fold capillaries
nail changes, periungual erythema/ infarcts
Raynauds
Scars from discoid rash, active discoid lupus including over palm
palmar erythema
overlap: sclerodactyly, RA hands
double pinch test for thin skin (steroids)
what to examine for in patient with SLE?
upper limbs
rash, discoid scarring
proximal myopathy (steroids)
what to examine for in patient with SLE?
(face)
malar rash
pinched facies?-> microstomia? (SSc overlap)
hairline: alopecia (may be scarring from discoid rash)
salt and pepper pigmentation
ears for follicular plugging
eyes:
- scleritis, episcleritis
- conjunctiva for pallor, sclera icterus (haemolytic anaemia)
- cataracts (steroids)
mouth: oral ulcers, thrush from steroids
what to examine for in patient with SLE?
(cardio-respi)
cardio: pericardial rub, libbman sack’s endocarditis, pulmonary hypertension
respi: ILD, pleural effusion, pleural rub
what to examine for in patient with SLE?
rest of body
rash
petechiae (thrombocytopenia)
striae (steroids)
lower limbs for pitting oedema (hypoalbuminuria, proteinuria)
what to examine for in patient with SLE?
assessing function
assess hand function if sclerodactyly and deformities present
SLE examination of patient; how to complete your examination?
complete examination by:
- doing complete physical examination of all joints, abdomen for organomegaly
- urinalysis for proteinuria, haematuria and cellular casts
- take BP
- asking for history of color change in hands in the cold (Raynauds)
features of mixed connective tissue disease?
combines features of SLE, RA, systemic sclerosis, myositis
clinical features include:
- raynauds’
- sclerodactyly
- joint pain/ swelling
- rash
- malaise
- sjogrens
- myositis
- pulmonary hypertension
- pleuritis, pericarditis
- oesophageal hypomotility
- leucopenia
what antibodies are associated with mixed connective tissue disease?
anti-RNP antibody and speckled pattern ANA
prognosis of mixed connective tissue disease?
better prognosis
less involvement of internal organs
may progress to predominance of one connective tissue disorder over time
ix of SLE?
inx to confirm diagnosis, determine severity of organ involvement and activity of disease
Diagnosis:
FBC: leukopenia, anaemia (could be haemolytic), thrombocytopenia
Renal panel, Urinalysis: renal impairment, proteinuria, microscopic haematuria, cellular casts
ANA
Anti-dsDNA, Anti-Sm, Anti lymphocyte antibodies, anti centromere antibodies
Severity:
C3, C4
ESR
Albumin
Organ involvement:
Renal US, biopsy
CXR, HRCT
ECG, 2DE
when to consider renal biopsy in SLE?
if renal impairment present +/-
proteinuria, microscopic haematuria, cellular casts
may need renal biopsy to evaluate class of lupus nephritis
-> Class III, IV and V require treatment with high dose steroids/ rituximab. Class VI usually not treatable
What is the WHO classification of lupus nephritis?
Class I: Minimal change disease
Class II: Mesangial
Class III: Focal proliferative
Class IV: Diffuse proliferative
Class V: Membranous
Class VI: Glomerulosclerosis/ advance diffuse sclerosing
Minced Meat For De Meat Grinder
Serological tests to send for SLE?
anti nuclear antibody: sensitive screening test
-> will get some false positives
anti-dsDNA: specific
anti-smith: specific
anti-phospholipid antibodies: helpful in diagnosis and to evaluate for associated anti-phospholipid syndrome
- lupus anticoagulatn
- anti-cardiolipin
- anti-B2 glycoprotein
what blood tests to send to evaluate for assesment of activity of SLE
low complements: C3, 4
raised ESR
CRP: usually normal or mildly elevated in SLE, unless in presence of concurrent infection
low albumin
renal ix in SLE?
UFEME, urine protein:Cr, 24h urine total protein
renal US
renal biopsy
respiratory inx in SLE?
CXR, HRCT -> to look for interstitial lung disease, pleural effusions (serositis)
Cardiac ix in SLE
troponins
ECG
2DE
-> pericarditis, libbman sacks endocarditis, pulmonary hypertension, pericardial effusion
management of SLE?
MDT approach
patient education: avoid sunlight, support group
pharmacological treatment:
definitive immunosuppression: corticosteroids, steroid sparing agents, anti-CD20 monoclonal antibodies ie. Rituximab
cutaneous manfestations:
avoid sunlight, use sunscreen
hydroxychloroquine
symptomatic meds: NSAIDs for arthritis (but avoid in lupus nephritis)
anticoagulation for anti-phospholipid syndrome
immunosuppression agents used for SLE?
corticosteroids:
high dose IV methylprednisolone for rapidly progressing lupus nephritis or very active lupus e.g. Diffuse alveolar haemorrhage, gut vasculitis
steroid sparing agents:
cyclophosphamide
mycophenolate mofetil
Rituximab (anti-CD20) - indicated for rapidly progressive lupus nephritis
what medications may cause drug-induced lupus?
procainamide, hydralazine, isoniazid
features of drug-induced lupus
usually multi-organ involvement, but usually spares CNS and renal
clinical and lab features usually return to normal after withdrawal of offending drug
what antibody is associated with drug-induced lupus?
anti-histone antibody
- but not specific for it
what is Jaccoud’s arthropathy?
chronic, reducible, non-erosive, painless joint deformities with preservation of hand function
characterized by ulnar deviation of 2-5th fingers and subluxation of the MCPJ, which are voluntarily correctable by the patients
toes may also be affected
deformities corrected by placing hands flat on table
caused by imbalance between flexor and extensor tendons
causes of Jaccoud’s arthropathy?
initially described as complication of recurrent rheumatic fever
connective tissue disease, SLE, psoriatic arthritis
inflammatory bowel disease
malignancy
familial mediterranean fever
what are the types of scleroderma?
systemic sclerosis
1) Limited cutaneous SSc
- includes CREST syndrome (calcinosis, Raynaud’s, oesophageal dysmotility, sclerodactyly, telangiectasia) that has a better prognosis
2) Diffuse cutaneous SSc
- independent of whether there is systemic involvement, only considers skin
- face and neck not considered
3) systemic sclerosis sine scleroderma
- systemic complcications without skin involvement
localised scleroderma
- morphea
- linear scleroderma
overlap syndromes
differences between diffuse cutaneous and limited cutaneous systemic sclerosis?
skin involvement:
distal and proximal aspects of extremities, trunk +/- face (diffuse)
vs
distal to elbows and knees but may involve face and neck (limited)
Raynaud’s phenomenon:
onset within 1 year or at time of skin changes (diffuse)
vs
may precede skin disease by years (limited)
Organ involvement:
renovascular hypertensive crisis, interstitial fibrosis, GI, cardiac (diffuse)
vs
GI, pulmonary arterial hypertension after 10-15 years of disease in < 10% of patients, biliar cirrhosis (limited)
Nail fold capillaries:
dilation and dropout (diffuse) vs dilation without significant dropout (limited)
Antinuclear antibodies:
Anti-topoisomerase 1 antibodies (Scl-70) - diffuse, assoc w pul fibrosis
vs
Anti-centromere Ab (ACA) - limited
what antibodies are associated with diffuse cutaneous vs limited cutaneous systemic sclerosis
Anti-topoisomerase 1 antibodies (Scl-70) - diffuse, assoc w pul fibrosis
vs
Anti-centromere Ab (ACA) - limited
types of localized scleroderma
morphea - plaque of indurated mauve skin which later becomes waxy and either pale or hyperpigmented with absent hair and sweating
linear scleroderma
en coup de sabre- linear scleroderma that presents on the frontal or frontoparietal scalp
treatment for morphea?
may improve spontaneously
topical steroids, topical/ oral vit D analogues and phototherapy may be helpful
history taking for scleroderma?
skin:
- skin tightness: duration, extent, progression
- tight facial skin
- sicca symptoms
- vitiligo, salt & pepper pigmentation
- fingers: tighntess, limited ROM, digitial ulceration and infarcts/ gangrene
- nail changes: atrophic and breaking of nails
- calcinosis
Vascular:
- raynauds phenomenon: triggers- smoking, cold, stress
- telangiectasia
MSK:
- joint pain: distribution, deformity
- weakness (myositis)
GI:
- reflux symptoms, dysphagia, +/- NGT and LOW +/- hoarse voice
- malabsorption, steatorrhoea
cardio/resp/renal
- SOB, chest pain, dry cough (CMP, pHTN, ILD, anaemia)
- hx of renal crisis: stroke, eye, renal sequelae
AI screening
Treatment and complications
PMH, drug hx, family hx etc
history elements to screen for in scleroderma to suggest other autoimmune conditions
early morning stiffness- duration, improvement with exercise
rashes- location, photosensitivity
alopecia
oral/ genital ulcers
history for scleroderma: treatment and complications
history of IV prostaglandin, nitroprusside
digital gangrene, infarct, amputations
steroid therapy and cushings, hirsutism, cataracts
hx of DM, HTN, HLD
history in scleroderma: what other PMH/FHx/Social hx to ask for
past medical history
meds: drug allergy, TCM use
smoking, ETOH use
Family history: thyroid, autoimmune illness (SLE, RA)
Job, hobbies
- functional impairment and impact on ADLs
Examination findings in scleroderma: general appearance
- pinched avian facies
- tight shiny skin
- thin/cachectic (malabsorption)
- NGT (dysphagia)
- amputations or gangrene of toes (Raynauds/ vasculitis) or surgical amputations for superimposed wet gangrene
- respiratory distress, supplemental O2 (pulmonary fibrosis, pulmonary hypertension)
- salt and pepper pigmentation, vitiligo
- IV infusion wrapped in aluminium/ black cloth (prostaglandin or nitroprusside)
- if cushingoid -> think ILD or overlap syndrome! look for complications of steroid therapy
examination findings in scleroderma: hands
- calcinosis
- Raynaud’s
- infarcts of digits: digital pulp atrophy, digital pitting, nail bed infarcts
- sclerodactyly/ tight shiny skin (with tapering of fingers)
- telangiectasia: esp over nail folds of fourth digit
- nail changes: breaking of nails, atrophic nails
- wasting of intrinsic hand muscles (disuse)
palpate for:
tight skin with double pinch test (check dorsum of hands, forearm, arm, trunk, forehead)
examination findings in scleroderma: arms
tight skin (extent of involvement)
proximal myopathy (myositis)
examination findings in scleroderma: face
- telangiectasia
- conjunctival palllor (anaemia)
- eye closure: difficulty closing eyes
- perioral puckering
- microstomia
- dry mouth and poor dentition
- oral thrush
examination findings in scleroderma: chest
pulmonary fibrosis: velcro like end inspiratory crepitations bibasally
auscultate the heart: pulmonary hypertenison, dilated cardiomyopathy, pericardial effusion, AV blocks
examination findings in scleroderma: lower limbs
- calcinosis, raynaud’s, ulcerations, telangiectasia
- gangrene, amputations, digitial infarcts
- if above present, check pulses
examination findings in scleroderma: function of hands
- turn door knob/ open bottle (Grip function)
- pick up coin (pincer grip)
- button clothes
examination in scleroderma: how to complete examination
- BP for hypertension
- auscultate abdomen for renal bruit (RAS)
- fundoscopy for hypertensive retinopathy and papilloedema
- urine dipstick for proteinuria and haematuria
ix for scleroderma
Diagnostic:
- antiobodies: anti-centromere (limited cutaneous), anti-topoisomerase (diffuse)
- nail fold capillary microscopy: fewer capillaries than normal, numerous dilated capillary loops
assess severity and complications:
- ESR, CRP elevated
- CK: elevated in myositis
- XR hands: acral osteolysis, calcinosis
- ECG, 2DE: AV block, dilated CMP, heart failure
- CXR/ HRCT: pulmonary fibrosis
- pulmonary function tests
- OGD: strictures, reflux
antibodies associated with scleroderma?
- anti-centromere antibodies: 45-50% of patients with limited cutaneous SSc, rare in diffuse
- anti-DNA topoisomerase I antibodies (Scl-70): 30% of diffuse, assoc pulmonary fibrosis. when present in high titres, associated with more extensive skin involvement and disease activity
- anti-nuclear antibodies: 90-95% of patients. usually speckled or centromere pattern. nucleolar pattern, less common, is more specific for Ssc
- anti-RNA polymerase I and III: specific for dSSc
- antibodies to U1 RNP: assoc Ssc-pulm HTN, and overlap syndrome, MCTD
mx of scleroderma?
MDT approach
management aimed at symptomatic relief, and maximising function
non pharmacological:
- patient education: avoid cold, keep extremities warm
- PTOT for maximising hand function
Pharmacological measures are organ specific
- immunosuppressants: steroids, MTX, Aza, cyclophosphamide
- anti-fibrotic agents
- for complications of ILD, pHTN, Raynauds, GI symptoms, HTN
Surgical
Pharmacological measures for scleroderma?
disease specific:
immunosuppression: steroids, MTX, azathioprine, cyclophosphamide, MMF
anti-fibrotic agents: penicillamine, interferon
ILD: steroids and steroid sparing agents
pHTN: prostaglandins e.g epoprostenol, sildenafil (phosphodiesterase inhibitors)
Raynauds: high dose CCB (Nifedipine), pentoxyphylline, prostacyclin, bosentan (endothelin receptor antagonist)
GI symptoms: promotility agents, PPIs
HTN: ACEi (esp during HTN crisis)
Myositis: steroids, MTX, aza
arthralgia, NSAIDs
surgical management in scleroderma?
digital sympathectomy for severe raynaud’s phenomenon
amputation for gangrene
correct fixed flexion deformities
drain calcinosis deposits
what are the criteria for scleroderma?
ACR 1980 criteria for classification of systemic sclerosis: requires 1 major or 2 minor
- does not include CREST-type patients
- intended for classification, not for diagnosis
major:
- sclerosis of skin proximal to MCPJ/ MTPJ
minor:
- sclerodactyly (skin changes limited to fingers, toes)
- digital tip pitting/ pulp atrophy
- bibasal pulmonary fibrosis
what are the phases of skin changes in scleroderma?
- oedematous phase
- dermal phase (induration)
- atrophic phase with contractures
associations and complications of systemic sclerosis?
MSK and cutaneous
digital infarcts/ gangrene
flexion contractures
sicca syndrome
associations and complications of systemic sclerosis?
cardio, resp
ILD and cor pulmonale
primary pulmonary hypertension
infiltrative CMP/ myocardial fibrosis
reflux pneumonitis, pleural effusion, alveolar cell carcinoma
pericarditis/ pericardial effusion
associations and complications of systemic sclerosis?
renal
scleroderma renal crisis
-> tx ACEi
associations and complications of systemic sclerosis?
GI
risk of barrett metaplasia 2’ oesophagitis
candida oesophagitis
oesophageal strictures
gastroparesis, oesophageal dysmotility
malabsorption w steatorrhoea (from dilated D2-> bacterial overgrowth)
malnutrition
primary biliary cirrhosis
associations and complications of systemic sclerosis?
neuro
entrapment neuropathies- carpal tunnel syndrome, trigeminal neuralgias
associations and complications of systemic sclerosis?
haem
anaemia: anaemia of chronic disease, IDA from oesophagitis, B12/folate deficiency from malabsorption, MAHA, aplasia from medications such as MTX
associations and complications of systemic sclerosis?
related to fertility/ pregnancy
high risk pregnancies- higher risk fo pregnancy loss and complications, but not an absolute contraindication to pregnancy
erectile dysfunction
what is mixed connective tissue disease?
2 or more - SLE, polymyositis, dermatomyositis, SSc
assoc with anti-ribonuclear protein (Anti-RNP) antibody - speckled pattern
prognosis of scleroderma?
male (poor)
renal or lung involvement (poor)
skin involvement only: 70% 10 yr survival
renal or lung involvement: 20% 10 yr survival
what antibody is associated with mixed connective tissue disease?
anti-RNP antibody, speckled pattern
what is scleroderma renal crisis?
presents with accelerated HTN, oliguria, headache, SOB, oedema
may result in renal failure, stroke, retinopathy, MAHA
UFEME: microscopic haematuria, proteinuria but otherwise bland, no cellular casts usually
prevention of scleroderma renal crisis
control HTN with ACEi
avoid high dose steroids
treatment of scleroderma renal crisis
ACEi
history taking in rheumatoid arthritis?
joint pains: distribution, deformity
early morning stiffness: duration, improvement with exercise
AI screen:
rashes
alopecia
sicca symptoms
oral / genital ulcers
disease cx:
- SOB (pulmonary fibrosis)
- eye symptoms
- focal weakness or numbness
- neck stiffness
treatment complications
past medical history
drugs, tcm use
etoh, smoking
family history of AI disease, thyroid disease
job, hobbies, functional impairment and impact on ADLs
history taking in rheumatoid arthritis?
treatment complications
- cushingoid, hirsutism, cataracts
- hx DM HTN HLD
- osteoporosis, AVN fem head, mood disturbances
- anaemia- SOBOE, postural giddiness, GI bleed
- hx CKD, transaminitis
- maculopathy
examination of rheumatoid arthritis
- hands and wrists
put on pillow and inspect
- joint deformities and arthropathy
- wasting
- dropped fingers 2’ tendon rupture
- rheumatoid nodules over elbow
- psoriatic nail changes
feel for joint warmth and tenderness
palpate hand joints (wrist -> DIPJ)
double punch skin test for thinning skin
tinels sign or surgical scar for CTS
function: gross and fine hand function
examination in rheumatoid arthritis
- general appearance/ cutaneous signs
general appearance:
cushingoid
hirsutism
striae
xanthelasma
DM dermopathy
features of CKD
features of SLE- malar rash
inspect hairline and ears for psoriasis
examination in rheumatoid arthritis
- face: eyes, mouth
episcleritis, scleritis
cataracts
anaemia
jaundice (haemolytic anaemia, transaminitis)
oral thrush
examination in rheumatoid arthritis
heart lungs neuro
heart: AR, MR, pericarditis, pHTN
Lungs; Basal pulmonary fibrosis, effusions
+/- Neuro: ask for any localised weakness. screen EOM, gross sensation, pronator drift, prox myopathy, median nerve palsy, gait
offer abdo exam: splenomegaly for felty’s syndrome, striae
description of rheumatoid arthritis hands
bilateral symmetrical deforming polyarthropathy of the hands
- predominantly affecting the PIPJ/MCPJ
- swan neck, boutonniere’s, z thumb deformities
- ulnar deviation
- subluxation at the MCPJ and dorsal subluxation of the ulna at the carpal joint
presentation of rheumatoid arthritis, what to mention
diagnosis of RA, due to signs seen
whether disease is active/ quiescent
complications of RA
treatment complications
important negatives: e.g. psoriasis, SLE
function
what would suggest if RA is active/ quiescent
if active disease: with warmth, swelling and tenderness over __ joints
other than classic hand description of rheumatoid arthritis, what other things could be mentioned
rheumatoid nodules over elbows, extensor surfaces
pyoderma gangrenosum
vasculitis lesions- nail fold infarcts
wasting of intrinsic muscles of hands (disuse)
complications of rheumatoid arthritis: eyes
keratoconjunctivitis sicca
episcleritis, scleritis, scleromalacia perforans
blurring of vision 2’ hydroxychloroquine induced maculopathy
complications of rheumatoid arthritis: CVM
valvular incompetence - AR, MR
pericarditis
complications of rheumatoid arthritis: respi
pulmonary fibrosis
pulmonary hypertension
pleural effusions
Bronchiolitis obliterans with organizing pneumonia
Caplan’s syndrome -combination of RA and pneumoconiosis -> massive lung fibrosis + pulmonary nodules (v rare)
pneumoconiosis + rheumatoid arthritis?
caplans’ syndrome
characteristic pattern of fibrosis
5-50 mm well-defined nodules in the upper lung lobes/lung periphery
complications of rheumatoid arthritis: msk
atlanto-axial subluxation +/- cervical myelopathy
dropped fingers 2’ tendon rupture
complications of rheumatoid arthritis: abdomen
Felty’s syndrome - splenomegaly, neutropenia and RA
complications of rheumatoid arthritis: neuro
- nerve entrapment: carpal tunnel syndrome
- EOM affected - mononeuritis multiplex or myasthenia 2’ penicillamine or autoimmune mediated
- mononeuritis multiplex
- peripheral neuropathy
- muscle atrophy, proximal myopathy 2’ steroids, penicillamine
Feltys syndrome - features
splenomegaly + RA + neutropenia
- assoc anaemia/ pancytopenia
- a/s positive ANA, LNpathy, LOW, vasculitic rash, recurrent infections
Treatment of Felty syndrome
DMARDs
pulsed IV steroids
+/- cyclophosphamide
splenectomy in patients who fail medical therapy
how to test hand function
coarse motor function: turning of door knob, combing hair
fine function: buttons, opening bottle caps, writing
important negatives to mention in someone with suspected rheumatoid arthritis
psoriasis: skin lesions, nail changes
SLE: malar/ photosensitive rash
treatment complications in rheumatoid arthritis
- chronic steroid use
- anaemia 2’ RA, AIHA, drug induced myelosuppression etc
- chronic renal failure (may be 2’ chronic NSAID use)
- transaminitis: 2’ MTX, leflunomide
- penicillamine use: myasthenia (fatiguable weakness and complex ophthalmoplegia)
different patterns of onset seen in rheumatoid arthritis?
- palindromic: episodic with complete resolution between attacks. usually monoarticular
- systemic: systemic/ extra articular features
- polymyalgic: symptoms similar to polymyalgia rheumatica
- chronic persistent: typical form. relapsing/remitting course over years
- persistent monoarthritic: usu 1 knee, shoulder jt or hip involvement
causes of anaemia in rheumatoid arthritis?
- Iron deficiency: GI bleed from NSAIDs/ steroid
- megaloblastic anaemia: pernicious anaemia
- anaemia of chronic disease
- hypersplenism from felty’s syndrome
- aplasia 2’ gold/ penicillamine
poor prognostic indicators for rheumatoid arthritis?
- insidious onset and high activity at onset
- persistent activity after 1 year - active arthritis, ESR
- rheumatoid nodules or early erosions within 1 year
- extra-articular features
- high levels of RF and anti-CCP ab
- HLA DR4
Diagnostic criteria for rheumatoid arthritis?
american college of rheumatology diagnostic criteria: 4 or more of the following:
- morning stiffness >1h for >6/52
- symmetrical arthritis > 6/52
- arthritis of hand joints >6/52
- arthritis of >/=3 joints for > 6/52
- subcutaneous nodules
- RF positive
- characteristic XR findings: erosions, periarticular osteopenia
ix of rheumatoid arthritis?
diagnostic
- Rheumatoid factor (sensitivity 70-90%, specificity 95%)
- anti-CCP antibodies (more specific), assoc w more severe disease
to assess severity/ disease activity
- ESR, CRP
- XR joints: erosions and periarticular osteopenia
to rule out other complications/ assoc conditions:
- ANA to screen for lupus
- LFTs: many drugs cause derangement of LFTs
- Synovial fluid examination TRO septic or crystal arthropathies
management of rheumatoid arthritis?
MDT approach:
nurse clinician- education, counselling
PTOT to maximise function and independence
pharmacological therapies:
depends on severity
analgesia (NSAIDs, paracetamol)
Steroids, DMARDs
surgical therapies
what medical therapies are available in rheumatoid arthritis?
steroids
DMARDs: start early to slow disease progression
- sulfasalazine: 1st line in mild disease w/o radiological cx
- HCQ: alternative for mild disease w/o radiological cx
- MTX: first line in mod/severe disease with radiological cx e.g. erosions
- azathioprine: 2nd line (can add to MTX if inadequate control)
- leflunomide
- penicillamine
- gold
- ciclosporin
- infliximab (anti-TNFa)
- etanercept (anti-TNFa)
- anakinra (IL-1R blocker)
- rituximab (anti-CD20)
what are the first line DMARDs for mild rheumatoid arthritis without evidence of radiological complications?
sulfasalazine
hydroxychloroquine
side effects of hydroxychloroquine?
corneal deposits
Bulls eye retinopathy
reduced peripheral vision
first line in mod/severe rheumatoid arthritis with radiological complications such as erosions?
methotrexate
side effects of methotrexate?
myelosuppression
hepatotoxic + hepatic fibrosis
pulmonary fibrosis
B12, folate deficiency
side effects of leflunomide?
myelosuppression
hepatotoxicity
pulmonary fibrosis
side effects of penicillamine
pancytopenia
nephritis
side effects of gold
marrow suppression, nephropathy
indication to start Infliximab (anti-TNFa) therapy in rheumatoid arthritis?
inadequate response to at least 2 DMARDs, including MTX
side effects of infliximab/ adalimumab: anti TNFa
immunosuppression,
reactivation of latent TB
immunosuppression related malignancy
side effects of etanercept
risk of demyelination
side effects of anakinra (IL1- blocker)
immunosuppression
injection site reactions
worsening of heart failure
demyelination
side effect of rituximab
infusion reactions
b cell depletion -> increased risk infections
hep b reactivation
treatment options for rheumatoid arthritis in pregnancy?
sulfasalazine, hydroxychloroquine, azathioprine
Anti-TNFa not shown to cause increased risk in pregnancy, but currently not recommended
surgical options for rheumatoid arthritis?
tendon release
Carpal tunnel release
splenectomy in felty’s syndrome
what is Z thumb deformity?
hyperextension of the first IPJ and fixed flexion and subluxation of the first MCPJ
-> squaring appearance of the hands
what is boutonniere’s deformity?
hyperflexion of the PIPJ and hyperextension of the DIPJ
- due to rupture of the central slip of the extensor tendon over the PIPJ with imbalance of flexion and extension forces of the finger
what is swan neck deformity of the fingers?
hyperextension of the PIPJ and hyperflexion of the DIPJ
due to synovitis of the flexor tendons leading to flexion of the MCPJ w constant effort to extend the finger -> stretching of the collateral ligaments and volar plate of PIPJ -> intrinsic muscle balance leads to swan neck deformity
DDx for deforming polyarthropathy of the hands?
rheumatoid arthritis
RA type psoriatic arthritis
jaccoud’s arthropathy/ SLE deforming arthropathy (ulna deviation with subluxation of 2-5 fingers at MCPJ- voluntarily correctable)
gouty arthropathy - gouty tophi
osteoarthritis
History taking in psoriatic arthropathy?
joint pain- distribution, deformity
early morning stiffness - duration, improvement with exercise
AI screen:
rashes
alopecia
sicca symptoms
oral/ genital ulcers
precipitating factors: drugs (BB, ACEi), ETOH
disease complications: SOB (pulmonary fibrosis), eye symptoms, focal weakness, numbness, neck stiffness
treatment complications
past med history
meds: + TCM, OTC
smoking, etoh
family history: AI disease
job hobbies, functional impairment and impact on ADLs
examination in psoriatic arthropathy
general inspection:
inspect for psoriatic plaques over hairline, ears, neck
cushingoid?
features of SLE- malar rash
gouty tophi
hands and wrists: put on pillow to inspect
- joint deformities
- wasting
- psoriatic nail changes
- feel for joint warmth, palpate joints wrist -> DIPJ
- double pinch skin test for thinning skin
eyes: anaemia, jaundice (haemolytic anaemia, transaminitis)
mouth: thrush
heart: AR, MR, pHTN
lungs: pul fibrosis
offer abdo: plaques
offer to examine for other sites for psoriatic plaques: natal cleft, submammary, umbilicus, inguinal folds
function: gross and fine hand function
types of psoriatic arthropathy?
- mono/oligoarticular (75%)
- RA type (symmetrical joint involvement but seronegative, 15%)
- OA type (symmetrical terminal joint involvement, 5%)
- arthritis mutilans type (bilateral deforming arthropathy, telescoping of the digits)
- AS type (sacroiliitis and axial involvement, but the syndesmophytes arise from the lateral and anterior surface and not at the margins unlike AS)
other features of psoriatic arthropathy apart from joint and skin changes?
dactylitis
tenosynovitis
wasting of intrinsic hand muscles
nail changes - pitting, onycholysis, subungual hyperkeratosis, discoloration of nails
keloid formation over surgical scars
any joint disease, what to mention during presentation?
whether disease is active or quiescent
impact on function
treatment complications to look out for in psoriatic arthropathy?
cushings syndrome from chronic steroid use
anaemia (2’ AIHA, drug induced myelosuppression, GI bleed)
pulmonary fibrosis 2’ mtx (psoriasis itself not assoc w ILD)
chronic renal failure possibly 2’ chronic NSAID use
transminitis - 2’ mtx, leflunomide
psoriatic arthropathy, how to complete examination
- examine for other joint involvement
- full skin examination: esp scalp, knees, natal cleft, inguinal/ submammary folds, koebners phenomenon
- enquire for presence of any aggravating factors
what are the types of skin lesions seen in psoriasis?
- plaque
- guttate (assoc hx of strep infection)
- pustular
- erythrodermic
- inverse psoriasis (intertriginous area without typical silvery scales due to moisture and maceration)
typical sites of distribution for psoriatic plaques?
extensor surfaces of knees, elbows
scalp
umbilicus
natal clef
intragluteal, submammary folds
how to assess severity of psoriatic arthropathy?
Psoriasis Area and Severity Index (PASI)
- assess severity based on area, thickness, redness and scaling of lesions
- total score 72: scores of < 10, 10-50, >50 for mild, mod, severe respectively
what are the unique characteristics of psoriatic lesions?
salmon pink hue with silvery scales
koeber’s phenomenon
auspitz’s sign - capillary bleeding when silver scales are picked from plaque
moist red surface on removing of scales (bulkeley’s membrane)
what is koebner’s phenomenon, and what other conditions is it seen?
new skin lesions at site of cutaneous trauma
assoc:
- psoriasis
- eczema
- vitiligo
- lichen planus
- lichen sclerosus et atrophicus
- molluscum contagiosum
ddx for onycholysis?
psoriasis
fungal infection
thyrotoxicosis
lichen planus
aggravating factors for psoriatic arthropathy
emotional stress
alcohol
drugs - acei, BB, lithium, antimalarials
injury to skin
strep infection (assc guttate psoriasis)
radiological features of psoriatic arthritis?
- pencil in cup appearance
- periostitis - “fluffy”
- destruction of small joints
- non marginal syndesmophytes in AS type
prognosis of psoriatic arthropathy
10-15% of patients with psoriasis have psoriatic arthropathy
deforming and erosive in 40%
what other joint pathology can patients have especially if psoriatic disease is active?
gout - because of hyperproliferation
management of psoriatic arthropathy?
education
avoidance of aggravating factors
topicals +/- phototherapy (NBUVB, PUVA) for psoriasis
systemic medications
topicals for psoriasis?
moisturizers
salicylic acid (keratolytics)
coal tar
topical steroids
topical vit D analogue calcipotriol
topical retinoids
systemic therapies for psoriatic arthropathy?
methotrexate
azathioprine
MMF
acitretin
tacrolimus, cyclosporine
avoid systemic steroids due to risk of psoriasis flare on steroid withdrawal
biologics: infliximab, etanercept
indications for systemic therapy in psoriasis?
- failure of topical therapy
- repeated admissions for topical therapy
- extensive plaque psoriasis in elderly
- severe psoriatic arthropathy
- generalised pustular or erythrodermic psoriasis
what is bazex syndrome
rare, acral psoriasiform dermatosis associated with internal malignancies, most frequently squamous cell carcinoma of the upper aerodigestive tract.
-> psoriatic lesions on fingers, toes, nose, ears
-> exclude SCC of oropharynx, tracheobronchial tree, oesophagus
history taking in ankylosing spondylitis?
history of joint pain, early morning stiffness
AI screen
GI symptoms- IBD
psoriasis
disease complications
treatment complications
pmh, drug hx, smoking/etoh
family history
job hobbies, impact on ADL
ddx of ankylosing spondylitis?
psoriatic arthropathy axial variant
IBD; enteropathic arthritis
articular features of ankylosing spondylitis?
sacroiliitis
spondylitis
spinal ankylosis
intervertebral discitis
erosion of apophyseal joints
extra articular features of ankylosing spondylitis?
7As
anterior uveitis
aortic regurgitation
aortitis
AV block
apical lung fibrosis
amyloidosis
achilles tendinitis
examination of ankylosing spondylitis?
general appearance:
stooped posture, ? posture
loss of lumbar lordosis, marked cervical flexion
abdo breathing to compensate for reduced chest excursion
- look for psoriatic plaques (differential)
trunk:
- stand pt against wall (heel/ buttock against wall): measure wall to occiput distance (should be 0)
- stand away from wall, test for trunk flexion, extension, lateral flexion
- neck ROM
- Schober’s test
- look for psoriatic patch at natal cleft
- chest wall expansion
gait: walk patient to test gait
heel: achilles tendonitis (get patient to stand on toes)
upper limbs: nails for psoriatic pitting, psoriatic patches
then complete examination by examining:
- eyes
- cardiovascular system
- lungs
- assessing fine and gross motor function
schober’s test?
mark midline between PSIS
mark 5cm below and 10cm above
during forward flexion, distance between should extend by >5cm
eye examination in ankylosing spondylitis?
anterior uveitis, iritis
- painful, injected eyes, photophobia, sluggish pupillary reflexes
cardio/resp exam in ankylosing spondylitis?
aortic regurgitation
pulmonary hypertension from restrictive lung disease
apical lung fibrosis
abdo exam in ankylosing spondylitis?
scars that may indicate previous bowel surgery for IBD (differential)
psoriatic plaques (differential)
hepatosplenomegaly from amyloidosis
features of ankylosing spondylitis?
- stooped “question mark” posture
- fixed flexion of neck with increased wall to occiput distance
- restriction of movement of lumbar and cervical spine
- positive schobers test (loss of lumbar spine excursion)
- restriction of chest wall movements
what may suggest chronicity of disease on examination in ankylosing spondylitis?
extensive ankylosis involving cervical, thoracic, lumbar spine
ix of ankylosing spondylitis?
radiography:
- XR pelvis: sclerosis of sacroiliac joint
- xr spine: bamboo spine, squaring of vertebrae, dagger sign (ossification of posterior longitudinal ligament), loss of lumbar lordosis
- CXR for apical fibrosis
bloods:
FBC RP
ESR, CRP
HLA B27 (87% association)
ECG for cardiac conduction abnormalities, pHTN features
2DE: to exclude AR, measure aortic root diameter and pulmonary pressures
Lung function tests: restrictive defect due to pulmonary fibrosis, kyphosis and ankylosis of costovertebral joints
what is ankylosing spondylitis?
seronegative spondyloarthropathy
- chronic inflammatory arthritis affecting the SI joints with fusion of the spinal vertebrae
- assoc HLA B27
usually affects males, 3-4th decade
symptoms in ankylosing spondylitis?
back pain worse in the morning and with rest,
improves with activity
first signs of ankylosing spondylitis?
limited lateral flexion of the lumbar spine is first sign of spinal involvement,
followed by loss of lumbar lordosis
what is the heels-hips-occiput test for Ank Spond?
ask pt to place heels, hips and occiput against the wall
inability of the occiput to touch the wall
-> measure wall-occiput distance
why is there a protuberant abdomen in ank spond
restricted chest expansion from fixed spine -> predominantly diaphragmatic breathing
-> protuberant abdomen
causes of breathlessness in ank spond?
- restrictive lung disease
- interstitial lung disease
- cor pulmonale
- heart failure 2’ AR
conditions that may cause sacroiliitis?
- ank spond
- psoriatic arthropathy
- enteropathic arthritis
- reactive arthritis
diagnosis of ankylosing spondylitis?
Rome or New York criteria
based on
1. radiological features of sacroiliitis
2. symptoms of back pain (lumbar spine, dorsolumbar junction)
3. physical signs of limited spinal range of motion in all 3 planes and chest expansion < 2.5cm
imaging findings of ankylosing spondylitis?
early - erosions, sclerosis of SI joints
later- syndesmophytes in the margins of the lumbosacral vertebrae
advanced- “bamboo” spine
management of ankylosing spondylitis?
MDT
aims are to relieve symptoms, maximize function and limit disability
education and counselling
genetic counselling
exercises, PTOT involvement
pharmacological:
NSAIDs
DMARDs
surgical therapies
pharmacological therapies in ankylosing spondylitis?
NSAIDs- analgesia, anti-inflammatory
DMARDs - limited benefits
> can trial MTX, sulfasalazine for patients with predominant peripheral spondyloarthropathy
Biologics: anti TNFa therapies (etanercept, infliximab), anti CD20 (rituximab)
surgical therapies in ank spond?
joint replacement
spine straightening
indications for starting immunomodulators in ank spond?
TNF blocking agents recommended for treatment of active AS after having failed treatment for the patient’s predominant clinical manifestation
what indices may be used to assess disease activity in ankylosing spondylitis?
BASFI (Bath Ank Spon Functional Index); assess level of functional disability
BASDAI (Bath AS disease activity index): self administered questionnaire assessing severity of symptoms
ASAS (assessment in Ank Spond): composite sum of disease activity
features of reactive arthritis?
triad of urethritis, arthritis, conjunctivitis
usually after urogenital (chlamydia) Or GI (shigella, cambylobacter, salmonella) infection
cx: cirinate balanitis, keratoderma blenorrhagicum
causes of charcot joint?
metabolic: DM (commonest), renal
infection: syphilis, leprosy
neuro:
- peripheral neuropathy
- spinal cord injury
- myelomeningoecele
- syringomyelia
- HSMN
- congenital insensitivity to pain
examination findings of charcots joint?
general appearance:
grossly deformed foot/ankle
loss of concavity of foot arch
neuropathic punched out ulcers
amputation
DM dermopathy
features of peripheral vascular disease
ankle foot orthoses
palpate for warmth, swelling, tenderness, thickened nerves, pedal pulses
passive ROM of joints for:
crepitations
instability, hypermobility of the joint
active ROM
sensation:
- loss of propioception and vibration
- loss of pin prick sensation
charcot joint:
how to complete examination
- pupils for argyll robertson pupils (syphilis), bilateral ptosis (leprosy)
- rombergs gait (sensory ataxia with peripheral neuropathy)
- gait for sensory ataxic gait (high stepping gait, foot shuffling gait)
- examine back for spinal surgery scar, meningocele
- neuro exam of UL for dissociated sensory loss (syringomyelia)
- urine dipstick for glycosuria
what is a charcot’s joint?
chronic progressive degenerative neuropathic arthropathy resulting from a disturbance from sensory innervation of the affected joint
characterized by joint dislocations, pathologic fractures, debilitating deformities
results in progressive destruction of bone and soft tissues at weight bearing joints
aetiology of charcot’s joint?
any condition that causes sensory or autonomic neuropathy
complication of diabetes, syphilis, chronic alcoholism, leprosy, meningomyeloele, spinal cord injury, syringomyelia, renal dialsysi, congenital insensitivity to pain
diabetes is most common cause
presentation of charcot’s joint?
acute inflammation: unilateral swelling, hot, red, effusion, insensate foot -> acute charcot arthropathy
pain can occur
instability and loss of joint function: passive movement of joint may reveal instability
neuropathic ulcers: 40% have concomitant ulceration which complicates the diagnosis and raises concerns that osteomyelitis is present
stages of charcot’s foot?
atrophic form - usually forefoot with osteolysis with distal metatarsal, X ray shows MT resembling a pencil point
hypertrophic form (mid or rear foot and ankle):
- stage 0: clinical stage with sign and symptoms but no joint deformity
- stage 1: acute (developmental or fragmentation stage)
> periarticular fracture with joint dislocation and unstable deformed foot
> tender, red, swollen mimicking infection
- stage 2: subacute (coalescence stage)
> resorption of bone debris
- stage 3: chronic (reparative stage)
> restabilization
> enlarged and deformed, non tender fusion of the involved fragments
ix of charcot’s joint?
to confirm diagnosis, assess severity of joint destruction, rule out complications of osteomyelitis
assess underlying aetiology
imaging:
- XR: helps to stage disease, determine if active disease present or if joint is stable
- bone scan / MRI: may help to distinguish between osteomyelitis and charcot arthropathy
- doppler US to rule out DVT
labs: FBC ESR CRP
workup for underlying aetiology
diagnostic procedures
- synovial biopsy
- joint aspiration to rule out septic joint
x-ray features of charcot joint
osteopenia
periarticular fragmentation of bone
subluxations/ dislocations
fractures
generalised destruction
workup for underlying aetiology of charcot joint?
RP - renal failure
HbA1c - DM
RPR/VDRL - syphilis -> then LP
B12/folate - peripheral neuropathy
LFT, coags - alcoholism
ALP Ca Phosphate PTH - TRO paget’s disease, hypercalcaemia 2’ metastatic bone lesion
some diagnostic procedures for charcot joint
synovial biopsy
- small fragments of bone and cartilage debris are embedded in the synovium because of joint destruction
- highly suggestive of charcot arthropathy
joint aspiration to rule out septic joint
demonstrate loss of protective sensation of foot
- semmes weinstein monofilament: positive if 4/10 sites affected
treatment of charcot joint
medical therapy of acute phase:
immobilization with cast/ brace/ ankle foot orthoses and reduction of stress (partial weight bearing, use crutches)
medical management of post acute phase:
education and professional foot care
protection of involved extremity: custom footwear, brace
surgical options
surgical management of charcot joint?
osteotomy, arthrodesis, screw and plate fixation, reconstructive surgery, amputation
surgery indicated for malaligned, unstable, nonreducible fractures or dislocations
goal of reconstruction -> create a stable plantigrade foot that can support ambulation
contraindication: active inflammation
history taking for dermatomyositis?
rash- distribution, photosensitivity
weakness, myalgia- pattern
alopecia
digital gangrene (vasculitis)
raynauds
disease cx:
fatiguability (anaemia)
LOW, LOA (malignancy)
malignancy screen
SOB from ILD
dysphagia
AI screen
treatment complications
management of post acute phase in charcot arthropathy?
patient education and professional foot care
lifelong protection of involved extremity:
- brace
- custom footwear
total healing process typically takes 1-2 years
management of acute phase in charcot arthropathy?
immobilization and reduction of stress
- casting x 3-6 months
- metal braces, ankle foot orthoses
- partial weight bearing with assistive devices eg crutches, walkers
examination findings for dermatomyositis?
general appearance:
- cachexia (malignancy)
- cushingoid (steroids)
hands:
gottron’s
vasculitis, dilated nailfold capillaries
periungual erythema and telangiectasia
raynauds
mechanics hands
calcinosis
clubbing (malignancy)
features of SLE/SSc/RA (overlap syndrome)
upper limbs:
elbows for rashes
tenderness of muscles
proximal myopathy
face:
heliotrope rash
alopecia
shawl sign
weakness of neck flexion
conjunctival pallor (GI/ myeloproliferative malignancies)
radiotherapy marks (NPC)
respi:
pulmonary fibrosis, pulm HTN, signs of lung ca
abdomen:
striae
scars (GI malignancy)
hepatomegaly (liver mets)
knees for rash
**test function: **
hands- gross and fine motor function
LL: gait, squat to stand
dermatomyositis, what to request for to complete your examination?
request to screen for underlying malignancy:
- breast exam
- respiratory exam
- abdominal exam: GI primary, liver mets
- hx of dysphagia, reflux symptoms and weakness
what is gottrons sign
scaly violaceous papules over knuckles with erythema that spares the phalanges
what are mechanic’s hands?
lateral and palmar aspect of fingers become rough and cracked with irregular dirty horizontal lines/fissuring, erythematous red pulp of fingers
dermatomyositis, what important negatives to mention in presentation?
- no features of overlap syndrome: SLE, SSc, RA
- no features of underlying malignancy
V shaped erythematous rash over neck and upper chesk and back. may become post inflammatory hyperpigmentation
shawl sign
ix of dermatomyositis?
aims would be to confirm diagnosis and exclude underlying malignancy
diagnostic:
- CK: raised and reflects disease activity
- Myositis panel: ANA, Anti-Mi2, anti-Jo1
- EMG: myopathic changes
- muscle biopsy: muscle necrosis and phagocytosis of muscle fibres, with interstitial and perivascular infiltration of inflammatory cells
rule out malignancy
what other inx may be indicated to rule out malignancy in dermatomyositis?
- ENT evaluation +/- MRI neck and posterior nasal space to look for NPC
- endoscopic evaluation of GI tract
- Mammogram and US pelvis/ gynae exam for females
- PSA in males
- CT Neck, TAP
what other ix may be indicated for other complications of dermatomyositis?
dysphagia: barium swallow. for atonic dilated oesophagus
CXR/ HRCT for ILD
Bohan and Peter criteria for diagnosis of dermatomyositis?
4 out of 5 criteria:
1) cutaneous features
2) symmetrical proximal muscle weakness
3) elevated muscle enzymes (CK, AST, Aldolase, LDH)
4) EMG showing myopathic pattern, spontaneous fibrillation, short duration polyphasic motor potentials, complex repetitive discharges
5) Muscle biopsy: perivascular and perimysial inflammation and infiltration of mononuclear cells, perifascicular necrosis
what muscle enzymes may be elevated in dermatomyositis?
CK
Aldolase
AST
LDH
classification of bohan for dermatomyositis/ polymyositis?
group 1: primary idiopathic polymyositis
group II: primary idiopathic dermatomyositis
group III: dermatomyositis or polymyositis a/w malignancy
group IV: childhood dermatomyositis or polymyositis a/w vasculitis
group V: dermatomyositis or polymyositis a/w collagen vascular disease
management of dermatomyositis?
education and counselling
general:
skin -avoid sun
muscle- bed rest, PTOT
dysphagia- ST, bed elevation
medical treatment:
- steroids
- IVIG, MTX, azathioprine
- CCB e.g. diltiazem for calcinosis
treat underlying malignancy
what is dermatomyositis?
an idiopathic inflammatory myopathy with characteristic cutaneous findings
types of dermatomyositis?
dermatomyositis
polymyositis
amyopathic dermatomyositis (just skin features)
what are some disorders associated with myositis?
drugs - statin, chloroquine, colchicine
infection: CMV, lyme disease
eosinophilic myositis
DDx for dermatomyositis?
other inflammatory myopathies e.g. inclusion body myositis
drug induced myopathy
hypothyroidism
HIV infection
MND, SMA
myasthenia gravis
features of inclusion body myositis?
insidious onset
more prominent distal muscle weakness, with involvement of
- wrist and finger flexors in the upper extremities
- quads and ant tibial muscles in legs
asymmetric esp in beginning
ix of inclusion body myositis?
MRI: inflammation through muscle (vs along fascial planes in polymyositis)
biopsy: fatty infiltration and muscle atrophy
drug induced myopathy causes?
statin, fibrate
steroid
antimalarials, chloroquine
colchicine
penicillamine
differences between MND and dermatomyositis?
MND: UMN + LMN signs
usually normal muscle enzymes
EMG: no myopathic changes
differences between myasthenia gravis and dermatomyositis?
MG:
fatiguability
EOM affected (rarely in DM)
normal muscle enzymes
EMG: decremental response to tetanic train stimulation
anti-AChR antibodies
prognosis of dermatomyositis?
depends on
- presence of underlying malignancy
- severity of myopathy
- presence of cardiopulmonary involvement
what are the myositis specific antibodies?
- anti-Jo1 (more common in polymyositis than dermatomyositis)
- anti Mi-2
- Anti-SRP (signal recognition particle): assoc w severe myopathy and aggressive disease
anti-Mi-2 antibodies in dermatomyositis assoc w?
relatively acute onset
shawl sign
what autoantibodies may be found in polymyositis/dermatomyositis?
ANA up to 80%
Myositis specific antibodies in ~30% (Jo1, mi2, SRP)
anti-Ro, La, Sm, RNP - > suggest overlap with other connective tissue disease
Anti-Ro antibodies + myositis?
suggest overlap of PM/DM with SLE/ sjogrens
Anti RNP antibodies + myositis?
suggest overlap of DM/PM with mixed connective tissue disease
-> better prognosis, less involvement of internal organs
-> may progress to predominance of one connective tissue disorder over time
anti-synthetase syndrome?
assoc w anti-synthetase antibodies (such as anti Jo1)
up to 30% of DM/PM patients
- acute disease onset
- constitutional symptoms e.g fever
- raynauds
- mechanics hands
- ILD
- arthritis
myositis, arthritis, ILD
anti-synthetase syndrome
anti-MDA 5 antibody in dermatomyositis assoc w?
poor prognosis
assoc w rapidly progressive ILD
anti TIF 1 gamma antibodies in dermatomyositis assoc w?
predicting cancer association
antipolymyositis-scleroderma (PM-Scl) and anti ku antibodies + myositis?
seen in polymyositis/ SSc overlap
what antibodies in myositis panel are important?
- some are assoc with overlap syndromes
- some are myositis specific: Jo1, Mi2
- some are assoc w cancer: TIF1
- some assoc with rapidly progressive ILD: MDA 5
medications for Dermatomyositis?
- pulsed IV steroids for induction then tapering oral regime for maintenance
- DMARDs are steroid sparing
- cyclophosphamide, rituximab, IVIG for severe/ resistant cases
history taking in gout?
- joint pain history
- autoimmune screen
- disease complications:
urate renal stones - renal colic, haematuria
crystal nephropathy
tophi/ joint deformity - treatment complications:
NSAID nephropathy
cushings/ steroid side effects - gout precipitatants:
diet: alcohol, meat, seafood, nuts
dehydration
history of psoriasis, lympho/myeloproliferative disease, haemolytic anaemia, polycythaemia
drugs: diuretics, aspirin, tacrolimus, cyclosporine
pmhx; ESRF
FHX gout
DDx of gouty arthropathy?
RA
OA
psoriatic arthropathy
examination in gout?
general appearance:
overweight, male (or females post menopause)
features of metabolic syndrome: HLD, DM
hands/ elbows:
asymmetrical deforming polyarthropathy
tophi
Dupuytren’s contracture (ETOH)
nails: pitting, onycholysis (Ddx psoriasis)
look for tophi at the elbows, pinna of ears, feet (esp 1st MTPJ), ankles and heel (achilles tendon)
screen for psoriatic plaques (differential)
assess function of hands: fine and gross motor
gait
screen for signs of secondary causes
examination in gout:
to screen for signs of secondary causes
- signs of alcoholism: parotidomegaly, dupuytren’s contractures
- signs of ESRF: perm cath, AVF, PD catheter, sallow appearance
- signs of metabolic syndrome: xanthelasma, DM dermopathy, obesity
- eyes for pallor, jaundice, plethora: haemolytic anaemia, polycythaemia
examination in gout:
how to complete your examination?
- offer abdominal exam:
> look for PD catheter/ scars (ESRF)
> Hepatosplenomegaly + look for lymphadenopathy (lympho or myeloproliferative disease)
> periumbilical psoriatic plaques (DDx)
assess CVRF: BP, serum glucose
urine dipstick for glycosuria, proteinuria (nephropathy), haematuria (urate stones)
detailed history for drugs, diet, alcohol
what drugs are assoc w higher risk of gout?
diuretics: hydrochlorothiazide, dehydration
aspirin
immunosuppressant drugs: Ciclosporin, tacrolimus
TB meds: pyrazinamide, ethambutol
features of gout?
asymmetrical deforming polyarthropathy
gouty tophi- soft/ firm, not attached to the extensor tendons
presentation of gout
chronic tophaceous gout with complications of … :
- description
- arthritis active/ quiescent
- functional impairment
- underlying aetiology: ESRF, myelo/lymphoproliferative disease, psoriasis, metabolic syndrome, haemolytic anaemia, polycythaemia
ix for gout?
confirmation of diagnosis:
- joint aspiration to visualise crystals
- uric acid
- XR of joints: erosive arthropathy from tophi with overhanging edges
excluding predisposing and associated conditions:
- FBC: polycythaemia, haemolytic anaemia
- RP: ESRF
- Hx of alcoholism: LFT, coags
- CVRF: Lipids, fasting glucose
joint aspiration for gout
negatively birefringent needle shaped crystals (monosodium urate crystals)
joint aspiration for pseudogout?
calcium pyrophosphate dyhydrate (CPPD) crystals
-> positively birefringent rhomboid crystals
Mx of gout
MDT approach:
dietican ; low purine diet
education - avoid precipitating drugs/ foods/ dehydration (red meat, legumes/ bean products)
Management of acute flares
Prevention
mx of acute flares of gout?
analgesia - NSAIDs (indomethacin)
colchine (500mcg TDS): dose adjusted in renal failure, may be cx diarrhoea
prednisolone 30mg OM x 5 days
intra-articular steroid injection (triamcinolone) for renal failure
prophylactic management of gout?
allopurinol (xanthine oxidase inhibitor: inhibits uric acid formation)
uricosuric agents: probenecid agent, sulfinpyrazone
side effects of allopurinol?
- rash, diarrhoea, drug fever
- leukopenia, thrombocytopenia
- allopurinol hypersensitivity syndrome
when to start medications for prophylaxis of gout?
- recurrent attacks
- chronic tophaceous gout
- renal failure
- urate nephropathy/ high uric acid levels
- predisposing cause e.g. myeloproliferative disease, chemo/radiotx which may induce tumour lysis syndrome
what is gout?
gout is a disorder of purine metabolism, resulting in hyperuricaemia either from overproduction or undersecretion of uric acid
-> result in deposition of urate crystals in the joints or bursae
typically presenting w acute monoarthritis of first MTPJ with pain swelling and exquisite tenderness which peaks within hours and lasts for days
what do tophi indicate?
severe, recurrent, chronic gout
common areas to look for gouty tophi
hands, exensor aspect of forearms, olecranon bursae
helix of the ears
1st MTPJ, toes, achilles tendons, infrapatellar regions
clinical manifestations of gout?
- asymptomatic hyperuricaemia
- acute arthritis
- chronic recurrent arthritis
- tophaceous gout
- uric acid nephrolithiasis
- uric acid nephropathy
triggering factors of gout?
- alcohol ingestion
- foods: meat, seafood, nuts, alcohol, innards
- drugs: thiazides, aspirin, cyclosporine, tacrolimus, pyrazinamide, ethambutol
- dehydration and fasting
- surgery, trauma
causes of gout
primary - assoc obesity, DM, HTN, high TG
secondary:
- drugs,
- chronic ETOH
- psoriasis
- chronic renal failure
- polycythaemia, haemolytic anaemia, lymphoproliferative, myeloproliferative
what is pseudogout
acute arthritis resulting from deposition of calcium pyrophosphate dihydrate crystals in the joints which are rhomboid shaped positively birefringent cystals under polarized light
types of crystal arthropathies?
- gout
- pseudogout
- calcium hydroxyapatite crystal deposition in large joints such as knees, shoulders, affecting the elderly
DDx for chronic tophaceous gout
florid tendon xanthomata
> yellow, not chalky
> adherent to tendon and not joint
> does not involve the bursae ie. no olecranon/ pinna lesions
> no active arthritis
genetics of hereditary haemorrhagic telangiectasia?
autosomal dominant (either chr 9 or 12)
mutation in gene encoding vascular endothelial cells
features of hereditary haemorrhagic telangiectasia?
- telangiectasia (cluster of non contractile dilated capillaries and venules):
> cutaneous perioral, oral, telangiectasia or over fingers/toes/trunk - AVM (abnormal direct connections between arteries and veins)
> CNS: intracranial AVM -> cranial nerve palsies, long tract signs if previous bleed, headaches
> Respiratory AVM
> GI
> Spinal: sacral vertebral
> cardiac failure (high output) due to AVM
diagnostic criteria for hereditary haemorrhagic telangiectasia?
shovlin criteria
- recurrent epistaxis
- telangiectasia at site other than nasal mucosa
- auto dom inheritance
- visceral involvement: AVM
mx of hereditary haemorrhagic telangiectasia?
organ specific treatment
CNS AVM: clipping, neurosurgical excision
pulmonary AVM: embolotherapy, surgical ligation/ resection
GI AVM: photocoagulation, endoscopic cautery
Epistaxis: cautery, laser ablation
supportive measures;
- blood transfusions
- iron supplementation
- for epistaxis: antifibrinolytic agent (Aminocaproic acid)
hormonal therapy with oestrogen
respiratory complications in hereditary haemorrhagic telangiectasia?
respiratory AVM
->
exertional SOB, orthodeoxia (more breathless on standing due to increased flow through AVM when standing than supine)
cyanosis, clubbing
GI complications in hereditary haemorrhagic telangiectasia?
hepatic AVM: bruit over liver
recurrent GI bleeding: angiodysplasia, mucosal telangiectasia
CNS complications in hereditary haemorrhagic telangiectasia?
intracranial AVM-> cranial nerve palsies, long tract signs if prev bleed, headaches
cerebral abscess or embolic stroke due to pulmonary AVM
examination of hereditary haemorrhagic telangiectasia?
mouth:
- telangiectasia around lips
- inside buccal cavity and on tongue
nose:
- crusted blood (epistaxis)
- telangiectasia around nostrils
- facial telangiectasia
face and eyes:
- conjunctival pallor (epistaxis and GI bleeding)
- look for eye deviation or loss of nasolabial fold to suggest VII palsy secondary to prev stroke/ AVM
lung: auscultate for basal cruit
hand:
- digital and nail bed telangiectasia
- clubbing and cyanosis from pulmonary AVM
- check pronator drift (previous stroke: haemorrhagic from cerebral AVM or ischaemic stroke from pulmonary AVM with embolisation)
- look out for jaundice and stigmata of CLD as differential for telangiectasia
abdo: hepatic bruit from AVM
lower limbs: pitting oedema from heart failure due to left to right shunting
Anti MDA5 dermatomyositis?
Amyopathic usually
Rapidly progressive ILD
Severe skin manifestations
Worse prognosis
Antiphospholipid syndrome diagnostic criteria?
At least 1 clinical and 1 lab criteria
clinical
- thrombosis: imaging or histological evidence of thrombosis without inflammation in tissue or organ
- pregnancy morbidity:
1) otherwise unexplained death at >=10 wks of normal fetus
2) or >=1 premature birth <= 34 wks due to eclampsia/ peeeclampsia/ placental insufficiency
3) or >= 3 embryonic (<10 wks) unexplained pregnancy losses
laboratory
APL on >=2 occasions > 12 wks apart, not >5 years prior to clinical manifestation:
- anti cardiolipin
- anti b2 glycoprotein IgM or IgG
- lupus anticoagulant
2019 EULAR diagnostic criterion for SLE:
Entry criteria
ANA positive
2019 EULAR diagnostic criteria for SLE?
Need at least one clinical criterion and >= 10 points
Clinical domains:
- constitutional: fever (2)
- haematologic: leukopenia (3), thrombocytopenia (4), autoimmune haemolysis (4)
- neuropsychiatric: delirium (2), psychosis (3), seizures (5)
- mucocutaneous: non scarring alopecia (2), oral ulcers (2), subacute cutaneous or discoid lupus (4), acute cutaneous lupus (6)
- serosal: pleural or pericardial effusion (5), acute pericarditis (6)
- MSK: joint involvement (6)
- renal: proteinuria >0.5g/24h (4), renal biopsy class 2 or V lupus nephritis (8), renal biopsy class 3/4 lupus nephritis (10)
Immunological domains:
- antiphospholipid antibodies: anti cardiolipin or anti b2GP1, or LAC (2)
- complements: low C3/c4
- SLE specific antibodies: anti dsDNA OR anti smith (6)
Constitutional features in EULAR Diagnostic criteria for SLE
Fever (2)
Haematologic features in EULAR diagnostic criteria for SLE
Clinical domain
- haematologic:
leukopenia (3),
thrombocytopenia (4),
autoimmune haemolysis (4)
Neuropsychiatric features in EULAR diagnostic criteria for SLE?
Clinical domain:
- neuropsychiatric:
delirium (2),
psychosis (3),
seizures (5)
Mucocutaneous features in EULAR criteria for SLE?
- mucocutaneous:
non scarring alopecia (2),
oral ulcers (2),
subacute cutaneous or discoid lupus (4),
acute cutaneous lupus (6)
Serosal features of EULAR Diagnostic Criteria for SLE
Pleural or pericardial effusion (5)
Acute pericarditis (6)
Musculoskeletal features of EULAR diagnostic criteria for SLE?
Joint involvement (6)
Renal criteria for EULAR diagnostic criteria for SLE
Proteinuria >0.5g/ day (4)
Renal biopsy class 2 or 5 lupus nephritis (8)
Renal biopsy class 3 or 4 lupus nephritis (10)
Immunological criteria EULAR diagnostic criteria for SLE?
Antiphospholipid antibodies: (2)
Anti cardiolipin or LAC or anti B2GP1
Complements:
Low c3 or c4 (3) , low c3 and c4 (4)
SLE specific antibodies:
Anti dsDNA or anti smith (6)
what is Behcet’s disease?
auto-inflammatory systemic vasculitis of unknown etiology.
characterized by mucocutaneous manifestations:
- recurrent oral and genital ulcerations
- ocular manifestations, especially chronic relapsing uveitis
- systemic vasculitis involving arteries and veins of all sizes.
- polyarthritis can be seen
diagnosis of Behcet’s disease?
mouth ulcers that recur at least three times a year, together with two of the following symptoms:
- Uveitis
- Typical skin rashes
- Genital ulcer
- A positive pathergy test (a special form of skin prick test)
management of behcet’s disease?
symptomatic, no cure
Smoking cessation
Medications:
Topical steroids for oral and genital ulcers
Colchicine: helps with oral and genital ulcers
Apremilast (PDE4 inhibitor, reduces TNFa): helps with oral ulcers
NSAIDs: for arthritis
Corticosteroids: for severe disease to control inflammation
Biologics
